Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70175954_70175957delinsTGCC , CM000679.2:g.70175954_70175957delinsTGCC | GRCh38 |
| NC_000017.10:g.68172095_68172098delinsTGCC , CM000679.1:g.68172095_68172098delinsTGCC | GRCh37 |
| NC_000017.9:g.65683690_65683693delinsTGCC | NCBI36 |
| NG_008798.1:g.11420_11423delinsTGCC , LRG_328:g.11420_11423delinsTGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243457.4:c.915_918delinsTGCC MANE Select | ENSP00000243457.2:p.Thr305= | |
| ENST00000243457.3:c.915_918delinsTGCC | ENSP00000243457.2:p.Thr305= | |
| ENST00000535240.1:c.915_918delinsTGCC | ENSP00000441848.1:p.Thr305= | |
| NM_000891.2:c.915_918delinsTGCC , LRG_328t1:c.915_918delinsTGCC | NP_000882.1:p.Thr305= | |
| XM_011524779.1:c.915_918delinsTGCC | XP_011523081.1:p.Thr305= | |
| NM_000891.3:c.915_918delinsTGCC MANE Select | NP_000882.1:p.Thr305= |